Variant report

Variant	rs72854515
Chromosome Location	chr6:28280137-28280138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28278749..28286420-chr6:28298924..28309589,20	K562	blood:
2	chr6:28278690..28281090-chr6:28292415..28293983,2	K562	blood:
3	chr6:28278744..28280710-chr6:28315124..28318113,2	K562	blood:
4	chr6:28279292..28281090-chr6:28292483..28294550,2	K562	blood:
5	chr6:28252016..28254141-chr6:28279359..28281399,2	K562	blood:

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction
ENSG00000189298	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1150710	1.00[ASN][1000 genomes]
rs11546572	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2079705	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34951544	1.00[AFR][1000 genomes]
rs41269285	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41269287	1.00[ASN][1000 genomes]
rs41269289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41270579	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs41270589	1.00[AFR][1000 genomes]
rs4540253	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61744109	1.00[ASN][1000 genomes]
rs62620226	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72844204	1.00[AFR][1000 genomes]
rs72844212	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72844218	1.00[AFR][1000 genomes]
rs72844220	1.00[AFR][1000 genomes]
rs72844226	1.00[AFR][1000 genomes]
rs72846777	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846792	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846797	1.00[ASN][1000 genomes]
rs72846802	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849204	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849206	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849210	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849214	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849222	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72850297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72850299	1.00[AFR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72851135	1.00[ASN][1000 genomes]
rs72851138	1.00[ASN][1000 genomes]
rs72851139	1.00[ASN][1000 genomes]
rs72851156	1.00[ASN][1000 genomes]
rs72851158	1.00[ASN][1000 genomes]
rs72851160	1.00[ASN][1000 genomes]
rs72851161	1.00[ASN][1000 genomes]
rs72851168	1.00[ASN][1000 genomes]
rs72851173	1.00[AFR][1000 genomes]
rs72851179	1.00[AFR][1000 genomes]
rs72851182	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854506	1.00[ASN][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854524	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72854525	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854527	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854531	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854533	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854535	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72854536	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72854542	0.85[AMR][1000 genomes]
rs72854546	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72854553	0.85[AMR][1000 genomes]
rs72854556	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7752415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28250000-28293800	Weak transcription	Gastric	stomach
2	chr6:28250600-28280600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:28255200-28283000	Weak transcription	HSMMtube	muscle
4	chr6:28255200-28293800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:28256600-28280800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:28265000-28280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:28268400-28280600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:28268800-28293400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:28269200-28291600	Weak transcription	Right Ventricle	heart
10	chr6:28269400-28280800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:28270000-28280800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:28270000-28290400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:28270000-28291400	Weak transcription	Ovary	ovary
14	chr6:28270000-28291600	Weak transcription	Brain Anterior Caudate	brain
15	chr6:28270000-28291600	Weak transcription	Fetal Brain Female	brain
16	chr6:28270000-28293400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:28271200-28293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:28271400-28293400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:28272400-28291800	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:28272400-28293200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:28272600-28292000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:28272600-28292600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:28272600-28292600	Weak transcription	Brain Germinal Matrix	brain
24	chr6:28273000-28291600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:28279200-28280600	Weak transcription	Esophagus	oesophagus
26	chr6:28279400-28280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:28279400-28280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:28279400-28280800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:28279400-28280800	Weak transcription	Pancreas	Pancrea
30	chr6:28279400-28285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:28279400-28290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:28279400-28293800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:28279600-28280600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:28279600-28282200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr6:28279600-28282600	Weak transcription	K562	blood
36	chr6:28279800-28281200	ZNF genes & repeats	Fetal Stomach	stomach
37	chr6:28279800-28288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:28280000-28281200	Strong transcription	Left Ventricle	heart

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